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先天性肌强直中的恶性高热。

Malignant hyperthermia in myotonia congenita.

作者信息

Heiman-Patterson T, Martino C, Rosenberg H, Fletcher J, Tahmoush A

机构信息

Department of Neurology, Hahnemann University Hospital, Philadelphia, PA 19102.

出版信息

Neurology. 1988 May;38(5):810-2. doi: 10.1212/wnl.38.5.810.

DOI:10.1212/wnl.38.5.810
PMID:3362383
Abstract

We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation after each developed muscle rigidity with anesthesia. Halothane contracture testing of skeletal muscle in both was consistent with MH susceptibility. A third sister without clinical evidence of MyC was negative on contracture testing. These results suggest an association between MyC and MH susceptibility.

摘要

我们报告了一个家族,其中两名患有先天性肌强直(MyC)的姐妹在麻醉后均出现肌肉强直,随后被转诊进行恶性高热(MH)评估。两人的骨骼肌氟烷挛缩试验结果均与MH易感性相符。第三名无MyC临床证据的姐妹挛缩试验结果为阴性。这些结果提示MyC与MH易感性之间存在关联。

相似文献

1
Malignant hyperthermia in myotonia congenita.先天性肌强直中的恶性高热。
Neurology. 1988 May;38(5):810-2. doi: 10.1212/wnl.38.5.810.
2
Masseter muscle rigidity and malignant hyperthermia susceptibility in pediatric patients. An update on management and diagnosis.小儿患者的咬肌强直与恶性高热易感性。管理与诊断的最新进展。
Anesthesiology. 1994 Jun;80(6):1228-33. doi: 10.1097/00000542-199406000-00009.
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Failure to induce malignant hyperthermia in myotonic goats.无法在强直性山羊中诱发恶性高热。
Br J Anaesth. 1983 Jan;55(1):57-60. doi: 10.1093/bja/55.1.57.
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Halothane-caffeine contracture testing in neuromuscular diseases.神经肌肉疾病中的氟烷-咖啡因挛缩试验
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Masseter spasm induced by succinylcholine in children: contracture testing for malignant hyperthermia: report of six cases.琥珀酰胆碱诱发儿童咬肌痉挛:恶性高热的挛缩试验:6例报告
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Malignant hyperpyrexia myopathy.恶性高热性肌病
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[Malignant hyperthermia under general anaesthesia. Abnormal histochemical and electron-microscopic muscle findings in combination with pathological serum-CPK-values evidencing the existence of primary myopathy (author's transl)].全身麻醉下的恶性高热。组织化学和电子显微镜下肌肉的异常发现,结合病理性血清肌酸磷酸激酶值,证明原发性肌病的存在(作者译)
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Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?肌强直和周期性麻痹与恶性高热易感性有关吗?
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In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.在体外肌挛缩调查先天性肌强直恶性高热样发作。
Acta Anaesthesiol Scand. 2013 Sep;57(8):1017-23. doi: 10.1111/aas.12126. Epub 2013 May 3.
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Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders.
Acta Anaesthesiol Scand. 2003 May;47(5):630-4. doi: 10.1034/j.1399-6576.2003.00116.x.

引用本文的文献

1
A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy.一例被误诊为肌营养不良症的安德森-陶威尔综合征病例报告。
Front Neurol. 2023 Jun 30;14:1170693. doi: 10.3389/fneur.2023.1170693. eCollection 2023.
2
Myotonia congenita and myotonic dystrophy: surveillance and management.先天性肌强直和肌强直性营养不良:监测与管理。
Curr Treat Options Neurol. 2010 Jan;12(1):16-28. doi: 10.1007/s11940-009-0055-z.
3
The genetics of malignant hyperthermia.恶性高热的遗传学
J Med Genet. 1993 Feb;30(2):89-93. doi: 10.1136/jmg.30.2.89.